Incidental Mutation 'R0183:Fstl5'
| ID |
23864 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fstl5
|
| Ensembl Gene |
ENSMUSG00000034098 |
| Gene Name |
follistatin-like 5 |
| Synonyms |
9130207J01Rik |
| MMRRC Submission |
038448-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R0183 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
3 |
| Chromosomal Location |
75981582-76617317 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 76229579 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 127
(I127L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125393
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038364]
[ENSMUST00000160261]
|
| AlphaFold |
Q8BFR2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038364
AA Change: I127L
PolyPhen 2
Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000038506
Gene: ENSMUSG00000034098
AA Change: I127L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
KAZAL
|
88 |
133 |
2.16e-9 |
SMART |
|
IGc2
|
261 |
328 |
1.11e-5 |
SMART |
|
IGc2
|
353 |
420 |
3.85e-14 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159686
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160261
AA Change: I127L
PolyPhen 2
Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000125393
Gene: ENSMUSG00000034098
AA Change: I127L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
KAZAL
|
88 |
133 |
2.16e-9 |
SMART |
|
IGc2
|
261 |
328 |
1.11e-5 |
SMART |
|
IGc2
|
353 |
420 |
3.85e-14 |
SMART |
|
| Meta Mutation Damage Score |
0.1134 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.3%
|
| Validation Efficiency |
84% (42/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
C |
T |
5: 77,034,082 (GRCm39) |
D490N |
probably benign |
Het |
| Aatf |
A |
T |
11: 84,401,251 (GRCm39) |
|
probably null |
Het |
| Amer3 |
T |
A |
1: 34,626,838 (GRCm39) |
I359K |
probably damaging |
Het |
| Appl1 |
A |
T |
14: 26,684,811 (GRCm39) |
D79E |
probably damaging |
Het |
| Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
| Baz1a |
T |
A |
12: 54,958,172 (GRCm39) |
E1026D |
probably damaging |
Het |
| Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
| Card14 |
C |
T |
11: 119,217,524 (GRCm39) |
R386C |
probably damaging |
Het |
| Cenpb |
T |
C |
2: 131,020,373 (GRCm39) |
|
probably benign |
Het |
| Clcn4 |
G |
A |
7: 7,298,090 (GRCm39) |
Q40* |
probably null |
Het |
| Clec16a |
T |
C |
16: 10,377,886 (GRCm39) |
Y28H |
probably damaging |
Het |
| Cul4a |
T |
C |
8: 13,183,790 (GRCm39) |
S393P |
probably damaging |
Het |
| Dcbld2 |
A |
G |
16: 58,265,722 (GRCm39) |
D194G |
possibly damaging |
Het |
| Dnah6 |
C |
T |
6: 73,059,906 (GRCm39) |
V2841I |
probably damaging |
Het |
| Eaf1 |
T |
A |
14: 31,217,272 (GRCm39) |
L16Q |
probably damaging |
Het |
| Eef1e1 |
C |
T |
13: 38,840,162 (GRCm39) |
A48T |
probably damaging |
Het |
| Exoc3l |
C |
A |
8: 106,021,932 (GRCm39) |
R57L |
probably damaging |
Het |
| Faf1 |
A |
G |
4: 109,792,807 (GRCm39) |
N593S |
probably benign |
Het |
| Fosb |
A |
G |
7: 19,041,310 (GRCm39) |
I61T |
probably damaging |
Het |
| Gas2l2 |
T |
A |
11: 83,319,882 (GRCm39) |
M125L |
probably benign |
Het |
| Gcnt1 |
C |
T |
19: 17,306,481 (GRCm39) |
D415N |
probably benign |
Het |
| Gtpbp4 |
A |
G |
13: 9,024,997 (GRCm39) |
M531T |
probably benign |
Het |
| Gucy1b2 |
T |
A |
14: 62,656,589 (GRCm39) |
K256M |
probably damaging |
Het |
| Igf2bp2 |
A |
T |
16: 21,897,480 (GRCm39) |
Y244* |
probably null |
Het |
| Jkamp |
T |
C |
12: 72,140,809 (GRCm39) |
I118T |
possibly damaging |
Het |
| Kalrn |
A |
T |
16: 33,991,749 (GRCm39) |
|
probably null |
Het |
| Kcnma1 |
A |
T |
14: 23,558,120 (GRCm39) |
D317E |
probably damaging |
Het |
| Lipo2 |
A |
T |
19: 33,726,951 (GRCm39) |
|
probably null |
Het |
| Lrig3 |
T |
A |
10: 125,846,061 (GRCm39) |
I830K |
probably damaging |
Het |
| Map3k4 |
A |
G |
17: 12,454,015 (GRCm39) |
I1429T |
probably damaging |
Het |
| Mkks |
G |
A |
2: 136,722,606 (GRCm39) |
L184F |
probably benign |
Het |
| Mmp19 |
C |
T |
10: 128,634,872 (GRCm39) |
T424I |
possibly damaging |
Het |
| Mrps23 |
A |
G |
11: 88,100,980 (GRCm39) |
E57G |
probably damaging |
Het |
| Myh7 |
T |
C |
14: 55,216,333 (GRCm39) |
T1282A |
probably benign |
Het |
| Or2y10 |
A |
G |
11: 49,455,675 (GRCm39) |
D309G |
probably benign |
Het |
| Or8k1 |
T |
A |
2: 86,047,173 (GRCm39) |
S294C |
probably damaging |
Het |
| Phf19 |
T |
C |
2: 34,801,214 (GRCm39) |
N75S |
probably damaging |
Het |
| Pink1 |
T |
G |
4: 138,041,490 (GRCm39) |
H477P |
probably damaging |
Het |
| Ppp6r2 |
G |
A |
15: 89,169,990 (GRCm39) |
C835Y |
probably damaging |
Het |
| Prkcq |
T |
C |
2: 11,257,973 (GRCm39) |
I295T |
probably damaging |
Het |
| Ptpn13 |
T |
C |
5: 103,664,274 (GRCm39) |
S421P |
probably benign |
Het |
| Ptpn6 |
A |
G |
6: 124,705,914 (GRCm39) |
S77P |
probably damaging |
Het |
| Ptpre |
G |
T |
7: 135,271,574 (GRCm39) |
M389I |
probably benign |
Het |
| Ranbp9 |
T |
C |
13: 43,578,599 (GRCm39) |
D158G |
probably damaging |
Het |
| Sec14l3 |
C |
T |
11: 4,025,547 (GRCm39) |
S357L |
probably benign |
Het |
| Slc1a6 |
A |
G |
10: 78,627,067 (GRCm39) |
T135A |
probably damaging |
Het |
| Spef2 |
A |
T |
15: 9,716,445 (GRCm39) |
D323E |
possibly damaging |
Het |
| Taf2 |
T |
A |
15: 54,919,186 (GRCm39) |
K396N |
possibly damaging |
Het |
| Tcf12 |
A |
T |
9: 71,824,309 (GRCm39) |
V94E |
probably damaging |
Het |
| Trim24 |
T |
A |
6: 37,920,415 (GRCm39) |
I404N |
possibly damaging |
Het |
|
| Other mutations in Fstl5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01632:Fstl5
|
APN |
3 |
76,615,135 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL01658:Fstl5
|
APN |
3 |
76,389,562 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL01917:Fstl5
|
APN |
3 |
76,615,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02073:Fstl5
|
APN |
3 |
76,566,959 (GRCm39) |
splice site |
probably benign |
|
|
IGL02329:Fstl5
|
APN |
3 |
76,496,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02651:Fstl5
|
APN |
3 |
76,500,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02967:Fstl5
|
APN |
3 |
76,229,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03004:Fstl5
|
APN |
3 |
76,555,738 (GRCm39) |
splice site |
probably benign |
|
|
IGL03107:Fstl5
|
APN |
3 |
76,443,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03113:Fstl5
|
APN |
3 |
76,337,099 (GRCm39) |
nonsense |
probably null |
|
|
P0038:Fstl5
|
UTSW |
3 |
76,052,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4131001:Fstl5
|
UTSW |
3 |
76,567,006 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0015:Fstl5
|
UTSW |
3 |
76,229,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0015:Fstl5
|
UTSW |
3 |
76,229,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0032:Fstl5
|
UTSW |
3 |
76,555,742 (GRCm39) |
splice site |
probably benign |
|
|
R0032:Fstl5
|
UTSW |
3 |
76,555,742 (GRCm39) |
splice site |
probably benign |
|
|
R0078:Fstl5
|
UTSW |
3 |
76,566,952 (GRCm39) |
splice site |
probably benign |
|
|
R0137:Fstl5
|
UTSW |
3 |
76,614,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0330:Fstl5
|
UTSW |
3 |
76,615,060 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0427:Fstl5
|
UTSW |
3 |
76,615,034 (GRCm39) |
nonsense |
probably null |
|
|
R0687:Fstl5
|
UTSW |
3 |
76,615,119 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1642:Fstl5
|
UTSW |
3 |
76,317,929 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1765:Fstl5
|
UTSW |
3 |
76,500,783 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1900:Fstl5
|
UTSW |
3 |
76,615,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1996:Fstl5
|
UTSW |
3 |
76,615,141 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2157:Fstl5
|
UTSW |
3 |
76,615,372 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2228:Fstl5
|
UTSW |
3 |
76,389,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2851:Fstl5
|
UTSW |
3 |
76,337,045 (GRCm39) |
splice site |
probably benign |
|
|
R4021:Fstl5
|
UTSW |
3 |
76,536,282 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4086:Fstl5
|
UTSW |
3 |
76,555,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4777:Fstl5
|
UTSW |
3 |
76,500,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4829:Fstl5
|
UTSW |
3 |
76,229,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4934:Fstl5
|
UTSW |
3 |
76,496,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4955:Fstl5
|
UTSW |
3 |
76,131,183 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4977:Fstl5
|
UTSW |
3 |
76,317,801 (GRCm39) |
nonsense |
probably null |
|
|
R5166:Fstl5
|
UTSW |
3 |
76,536,267 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5232:Fstl5
|
UTSW |
3 |
76,052,284 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5313:Fstl5
|
UTSW |
3 |
76,500,812 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5584:Fstl5
|
UTSW |
3 |
76,229,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5647:Fstl5
|
UTSW |
3 |
76,496,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5842:Fstl5
|
UTSW |
3 |
76,229,590 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5978:Fstl5
|
UTSW |
3 |
76,052,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6007:Fstl5
|
UTSW |
3 |
76,317,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6064:Fstl5
|
UTSW |
3 |
76,229,605 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6327:Fstl5
|
UTSW |
3 |
76,615,108 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6386:Fstl5
|
UTSW |
3 |
76,229,373 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6523:Fstl5
|
UTSW |
3 |
76,443,641 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6852:Fstl5
|
UTSW |
3 |
76,615,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6861:Fstl5
|
UTSW |
3 |
76,229,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6866:Fstl5
|
UTSW |
3 |
76,229,532 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7100:Fstl5
|
UTSW |
3 |
76,443,600 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7341:Fstl5
|
UTSW |
3 |
76,389,704 (GRCm39) |
splice site |
probably null |
|
|
R7495:Fstl5
|
UTSW |
3 |
76,615,099 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7558:Fstl5
|
UTSW |
3 |
76,337,092 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7731:Fstl5
|
UTSW |
3 |
76,569,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7787:Fstl5
|
UTSW |
3 |
76,337,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7852:Fstl5
|
UTSW |
3 |
76,615,275 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7874:Fstl5
|
UTSW |
3 |
76,569,093 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7881:Fstl5
|
UTSW |
3 |
76,443,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7986:Fstl5
|
UTSW |
3 |
76,337,097 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8039:Fstl5
|
UTSW |
3 |
76,555,725 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8050:Fstl5
|
UTSW |
3 |
76,614,810 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8844:Fstl5
|
UTSW |
3 |
76,337,154 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8929:Fstl5
|
UTSW |
3 |
76,615,138 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9012:Fstl5
|
UTSW |
3 |
76,567,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9069:Fstl5
|
UTSW |
3 |
76,615,416 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9221:Fstl5
|
UTSW |
3 |
76,569,114 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9373:Fstl5
|
UTSW |
3 |
76,555,669 (GRCm39) |
nonsense |
probably null |
|
|
R9427:Fstl5
|
UTSW |
3 |
76,229,583 (GRCm39) |
missense |
|
|
|
R9490:Fstl5
|
UTSW |
3 |
76,615,060 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9603:Fstl5
|
UTSW |
3 |
76,496,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Fstl5
|
UTSW |
3 |
76,615,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGAGGCACTGTGTTATCAACAGAG -3'
(R):5'- TGGCCTACAGACTAAACTGGCTACC -3'
Sequencing Primer
(F):5'- CACTGTGTTATCAACAGAGAGACAAG -3'
(R):5'- GGCCAGCTTTAGTCTCATAAATG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation